Katalin Susztak
University of Pennsylvania · Rehabilitation Medicine
Active 1993–2024
About
Katalin Susztak, MD, PhD, is a Professor of Medicine in the Department of Medicine (Renal-Electrolyte and Hypertension) at the Perelman School of Medicine at the University of Pennsylvania. She holds a hospital appointment at the Philadelphia VA Medical Center and is a member of the Institute of Diabetes, Obesity and Metabolism as well as the Institute of Translational Medicine and Therapeutics. Dr. Susztak is also the Codirector of the complications unit at the Institute of Diabetes, Obesity and Metabolism and co-chairs the Penn/CHOP Kidney Innovation Center. Her research is focused on understanding the molecular pathways that govern chronic kidney disease development. Her team aims to elucidate the genetics and molecular mechanisms underlying kidney disease with the goal of discovering new, more effective therapies. Her work has been instrumental in defining critical genes, cell types, and mechanisms involved in kidney disease, including the role of Notch signaling and metabolic dysregulation. Dr. Susztak's laboratory was the first to map the kidney epigenome and catalog genotype-driven gene-expression variation in human kidneys, integrating GWAS, eQTL, and epigenome data to prioritize disease-causing genes and variants. She has generated the first unbiased kidney cell-type atlas using single-cell transcriptomics, linking specific renal endophenotypes to dysfunction in particular cell types. Her contributions span multiple disciplines including genetics, genomics, epigenetics, molecular biology, physiology, and nephrology, with significant translational relevance and therapeutic potential. She has identified novel kidney disease genes such as MANBA, DAB2, CASP9, DPEP1/CHMP1A, DACH1, and APOL1, and demonstrated their roles in disease development through animal model studies. Her research has provided insights into the genetic and molecular basis of kidney disease, with implications for developing targeted treatments.
Research topics
- Biology
- Genetics
- Cell biology
- Medicine
- Bioinformatics
- Cancer research
- Internal medicine
- Computational biology
- Endocrinology
- Immunology
- Ecology
- Evolutionary biology
Selected publications
Genome biology · 2024 · 48 citations
- Biology
- Computational biology
- Evolutionary biology
Existing methods for analysis of spatial transcriptomic data focus on delineating the global gene expression variations of cell types across the tissue, rather than local gene expression changes driven by cell-cell interactions. We propose a new statistical procedure called niche-differential expression (niche-DE) analysis that identifies cell-type-specific niche-associated genes, which are differentially expressed within a specific cell type in the context of specific spatial niches. We further develop niche-LR, a method to reveal ligand-receptor signaling mechanisms that underlie niche-differential gene expression patterns. Niche-DE and niche-LR are applicable to low-resolution spot-based spatial transcriptomics data and data that is single-cell or subcellular in resolution.
Nature Communications · 2021 · 220 citations
Senior authorCorresponding- Biology
- Cell biology
- Computational biology
Determining the epigenetic program that generates unique cell types in the kidney is critical for understanding cell-type heterogeneity during tissue homeostasis and injury response. Here, we profile open chromatin and gene expression in developing and adult mouse kidneys at single cell resolution. We show critical reliance of gene expression on distal regulatory elements (enhancers). We reveal key cell type-specific transcription factors and major gene-regulatory circuits for kidney cells. Dynamic chromatin and expression changes during nephron progenitor differentiation demonstrates that podocyte commitment occurs early and is associated with sustained Foxl1 expression. Renal tubule cells follow a more complex differentiation, where Hfn4a is associated with proximal and Tfap2b with distal fate. Mapping single nucleotide variants associated with human kidney disease implicates critical cell types, developmental stages, genes, and regulatory mechanisms. The single cell multi-omics atlas reveals key chromatin remodeling events and gene expression dynamics associated with kidney development.
Nature Communications · 2020 · 63 citations
- Cell biology
- Biology
- Cancer research
Renal tubular epithelial cells (RTECs) perform the essential function of maintaining the constancy of body fluid composition and volume. Toxic, inflammatory, or hypoxic-insults to RTECs can cause systemic fluid imbalance, electrolyte abnormalities and metabolic waste accumulation- manifesting as acute kidney injury (AKI), a common disorder associated with adverse long-term sequelae and high mortality. Here we report the results of a kinome-wide RNAi screen for cellular pathways involved in AKI-associated RTEC-dysfunction and cell death. Our screen and validation studies reveal an essential role of Cdkl5-kinase in RTEC cell death. In mouse models, genetic or pharmacological Cdkl5 inhibition mitigates nephrotoxic and ischemia-associated AKI. We propose that Cdkl5 is a stress-responsive kinase that promotes renal injury in part through phosphorylation-dependent suppression of pro-survival transcription regulator Sox9. These findings reveal a surprising non-neuronal function of Cdkl5, identify a pathogenic Cdkl5-Sox9 axis in epithelial cell-death, and support CDKL5 antagonism as a therapeutic approach for AKI.
Nature Genetics · 2020 · 787 citations
- Biology
- Genetics
- Bioinformatics
eLife · 2020 · 342 citations
- Biology
- Cell biology
- Immunology
Bone marrow mesenchymal lineage cells are a heterogeneous cell population involved in bone homeostasis and diseases such as osteoporosis. While it is long postulated that they originate from mesenchymal stem cells, the true identity of progenitors and their in vivo bifurcated differentiation routes into osteoblasts and adipocytes remain poorly understood. Here, by employing large scale single cell transcriptome analysis, we computationally defined mesenchymal progenitors at different stages and delineated their bi-lineage differentiation paths in young, adult and aging mice. One identified subpopulation is a unique cell type that expresses adipocyte markers but contains no lipid droplets. As non-proliferative precursors for adipocytes, they exist abundantly as pericytes and stromal cells that form a ubiquitous 3D network inside the marrow cavity. Functionally they play critical roles in maintaining marrow vasculature and suppressing bone formation. Therefore, we name them marrow adipogenic lineage precursors (MALPs) and conclude that they are a newly identified component of marrow adipose tissue.
Recent grants
NIH · $2.4M · 2020
Adaptive and maladaptive repair after kidney injury
NIH · $8.0M · 2007–2028
APOL1 associated disease spectrum
NIH · $4.6M · 2015–2026
Epigenetics of Chronic Kidney Disease
NIH · $7.0M · 2009–2031
Frequent coauthors
- 82 shared
Hongbo Liu
University of Pennsylvania
- 62 shared
Amin Abedini
- 53 shared
Xin Sheng
- 47 shared
Jihwan Park
Gwangju Institute of Science and Technology
- 45 shared
Adriana M. Hung
- 44 shared
Chengxiang Qiu
University of Washington
- 43 shared
Matthew Palmer
University of Pennsylvania
- 43 shared
Ziyuan Ma
Rutgers, The State University of New Jersey
Labs
Katalin Susztak LaboratoryPI
Education
- 2004
Master of Clinical Research
Albert Einstein College of Medicine
- 1997
PhD, Physiology
Semmelweis University
- 1995
MD, Medicine
Semmelweis University
Awards & honors
- Professor of Medicine (Renal-Electrolyte and Hypertension)
- Member, Institute of Diabetes and Obesity and Metabolism
- Member, Institute of Translational Medicine and Therapeutics
- MD PhD admission Committee, PSOM
- Codirector of complications unit, Institute of Diabetes and…
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